ClinVar Miner

Variants studied for Senior-Loken syndrome

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
74 10 45 12 28 166

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CEP290 27 4 10 0 0 40
CEP164 8 2 5 8 15 37
SDCCAG8 7 2 7 2 5 23
WDR19 8 1 6 2 7 23
IQCB1 14 0 1 0 0 15
NPHP4 2 1 12 0 0 15
TRAF3IP1 6 0 0 0 0 6
NPHP1 1 0 4 0 0 5
AKT3, SDCCAG8 0 0 0 0 1 1
MALL, MTLN, NPHP1 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 5 3 12 11 26 57
Fulgent Genetics 9 1 28 0 0 38
OMIM 34 0 0 0 0 34
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 23 2 0 0 0 25
Genetic Services Laboratory, University of Chicago 3 0 0 0 0 3
Undiagnosed Diseases Network,NIH 3 0 0 0 0 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 1 0 0 2
Illumina Clinical Services Laboratory,Illumina 1 0 1 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 1 0 0 2
Human Genetics - Radboudumc,Radboudumc 2 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 2 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 1 0 2
Molecular Diagnostics Laboratory,M Health: University of Minnesota 1 1 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 1
Molecular Diagnostics Laboratory,Seoul National University Hospital 1 0 0 0 0 1
Laboratory of Molecular Oncology,N.N. Petrov Institute of Oncology 0 0 1 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 1

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